Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members
Groeneweg, Judith A.; Bhonsale, Aditya; James, Cynthia A.; Te Riele, Anneline S.; Dooijes, Dennis; Tichnell, Crystal; Murray, Brittney; Wiesfeld, Ans C P; Sawant, Abhishek C.; Kassamali, Bina; Atsma, Douwe E.; Volders, Paul G.; De Groot, Natasja M.; De Boer, Karin; Zimmerman, Stefan L.; Kamel, Ihab R.; van der Heijden, JF; Russell, Stuart D.; Cramer, MJ; Tedford, Ryan J.; Doevendans, Pieter A.; van Veen, AAB; Tandri, Harikrishna; Wilde, Arthur A.; Judge, Daniel P.; Van Tintelen, J. Peter; Hauer, Richard N. W.; Calkins, Hugh
(2015) Circulation-Cardiovascular genetics, volume 8, issue 3, pp. 437 - 446
(Article)
Abstract
Background Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a progressive cardiomyopathy. We aimed to define long-term outcome in a transatlantic cohort of 1001 individuals. Methods and Results Clinical and genetic characteristics and follow-up data of ARVD/C index-patients (n=439, fulfilling of 2010 criteria in all) and family members (n=562) were assessed. Mutations
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were identified in 276 index-patients (63%). Index-patients presented predominantly with sustained ventricular arrhythmias (268; 61%). During a median follow-up of 7 years, 301 of the 416 index-patients presenting alive (72%) experienced sustained ventricular arrhythmias. Sudden cardiac death during follow-up occurred more frequently among index-patients without an implantable cardioverter-defibrillator (10/63, 16% versus 2/335, 0.6%). Overall, cardiac mortality and the need for cardiac transplantation were low (6% and 4%, respectively). Clinical characteristics and outcomes were similar in index-patients with and without mutations, as well as in those with familial and nonfamilial ARVD/C. ARVD/C was diagnosed in 207 family members (37%). Symptoms at first evaluation correlated with disease expression. Family members with mutations were more likely to meet Task Force Criteria for ARVD/C (40% versus 18%), experience sustained ventricular arrhythmias (11% versus 1%), and die from a cardiac cause (2% versus 0%) than family members without mutations. Conclusions Long-term outcome was favorable in diagnosed and treated ARVD/C index-patients and family members. Outcome in index-patients was modulated by implantable cardioverter-defibrillator implantation, but not by mutation status and familial background of disease. One third of family members developed ARVD/C. Outcome in family members was determined by symptoms at first evaluation and mutations.
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Keywords: arrhythmias, cardiac, arrhythmogenic right ventricular dysplasia-cardiomyopathy, arrhythmogenic right ventricular dysplasia, cardiomyopathies, genetics, DESMOSOMAL MUTATION CARRIERS, TASK-FORCE CRITERIA, RISK STRATIFICATION, CARDIOMYOPATHY, GENE, DYSPLASIA, PLAKOPHILIN-2, PLAKOGLOBIN, ARRHYTHMIAS, PREVALENCE, Cardiology and Cardiovascular Medicine, Genetics(clinical), Genetics, Journal Article, Research Support, Non-U.S. Gov't
ISSN: 1942-325X
Publisher: Lippincott Williams and Wilkins
(Peer reviewed)